title: Upper gastrointestinal bleeding in a young patient with Budd Chiari syndrome due to a mutation of factor V Leiden: a case report.
abstract: Budd Chiari syndrome or hepatic venous outflow obstruction is a complex entity with multiple etiologies and various clinical manifestations. It is often difficult to establish the diagnosis. The most common cause is a hypercoagulable state due to either genetic disorders of blood coagulation or several acquired conditions such as hematological diseases, tumors, infections, chronic inflammatory diseases, pregnancy. The most common clinical presentation is hepatomegaly, abdominal pain and ascites, but the onset can also be dramatical and life threatening with upper digestive bleeding due to portal hypertension through postsinusoidal blockage. We report the case of a young patient with a coagulation disorder secondary to a mutation of factor V Leiden, who presented with upper digestive bleeding as the first manifestation of Budd Chiari syndrome and who also was associated with myocardial infarction in his past medical history.
authors.affiliation: 2nd Medical-Gastroenterology Clinic, St. John Emergency Hospital, Bucharest, Romania. endo_din@yahoo.com
authors.forename: Ion
authors.initials: I
authors.lastname: Dina
authors.forename: Claudia
authors.initials: C
authors.lastname: Iacobescu
authors.affiliation: Gastroenterology Department, Victor Babes University of Medicine, Gastroenterology and Hepatology Clinic, County Emergency Hospital, Timisoara, Romania
authors.forename: Adrian
authors.initials: A
authors.lastname: Goldis
mesh_terms: D000328:Adult; D000925:Anticoagulants / Q000627:therapeutic use; D001777:Blood Coagulation / Q000187:drug effects / Q000235:genetics*; D025861:Blood Coagulation Disorders, Inherited / Q000097:blood / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D006502:Budd-Chiari Syndrome / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D004252:DNA Mutational Analysis; D005165:Factor V / Q000235:genetics*; D006471:Gastrointestinal Hemorrhage / Q000209:etiology*; D006801:Humans; D006975:Hypertension, Portal / Q000175:diagnosis / Q000209:etiology*; D008297:Male; D009154:Mutation; D011237:Predictive Value of Tests; D016896:Treatment Outcome; D018615:Ultrasonography, Doppler, Color
chemical_list: D000925:Anticoagulants; C095381:factor V Leiden; D005165:Factor V